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Items: 1 to 100 of 110

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr18:29126335
GRCh38:
Chr18:31546372
DSG2-AS1, DSG2G997fsArrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10
Pathogenic/Likely pathogenic
(Jul 21, 2022)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr18:29104441
GRCh38:
Chr18:31524478
DSG2A241Tnot provided, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB,
Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Oct 26, 2022)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr18:29078264
GRCh38:
Chr18:31498301
DSG2Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB,
Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Nov 13, 2021)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr18:29125723-29125724
GRCh38:
Chr18:31545760-31545761
DSG2, DSG2-AS1D794fsArrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10
Pathogenic/Likely pathogenic
(Sep 27, 2021)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr18:29104850
GRCh38:
Chr18:31524887
DSG2K338Mnot provided, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB,
Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Feb 16, 2023)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr18:29078275
GRCh38:
Chr18:31498312
DSG2Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not provided,
Arrhythmogenic right ventricular dysplasia 10
Benign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr18:29098254
GRCh38:
Chr18:31518291
DSG2Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10Likely benign
(Aug 11, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr18:29126162
GRCh38:
Chr18:31546199
DSG2-AS1, DSG2T938NArrhythmogenic right ventricular dysplasia 10, Cardiomyopathy, Dilated cardiomyopathy 1BB,
Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Jul 27, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr18:29100904
GRCh38:
Chr18:31520941
DSG2R119*Cardiovascular phenotype, not provided, Cardiomyopathy
Conflicting interpretations of pathogenicity
(Nov 29, 2022)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr18:29115376
GRCh38:
Chr18:31535413
DSG2Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
Likely pathogenic
(Feb 14, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr18:29118873
GRCh38:
Chr18:31538910
DSG2H604RArrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Oct 19, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr18:29125874
GRCh38:
Chr18:31545911
DSG2, DSG2-AS1G842DArrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10,
Dilated cardiomyopathy 1BB
Uncertain significance
(Jul 27, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr18:29126632
GRCh38:
Chr18:31546669
DSG2, DSG2-AS1H1095NArrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10,
Dilated cardiomyopathy 1BB
Conflicting interpretations of pathogenicity
(Oct 18, 2022)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr18:29111098
GRCh38:
Chr18:31531135
DSG2F388CDilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype,
Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
Uncertain significance
(Jun 14, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr18:29126117
GRCh38:
Chr18:31546154
DSG2, DSG2-AS1P923RDilated cardiomyopathy 1A, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB,
Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Apr 22, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr18:29121225
GRCh38:
Chr18:31541262
DSG2T650ICardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10,
Dilated cardiomyopathy 1BB
Uncertain significance
(Jan 15, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr18:29126325
GRCh38:
Chr18:31546362
DSG2, DSG2-AS1I992MCardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
Uncertain significance
(Feb 11, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr18:29098203
GRCh38:
Chr18:31518240
DSG2I16TCardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
Uncertain significance
(Nov 12, 2021)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr18:29125991
GRCh38:
Chr18:31546028
DSG2, DSG2-AS1T881ICardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB,
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr18:29099812
GRCh38:
Chr18:31519849
DSG2H43RCardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB,
not provided
Uncertain significance
(Nov 1, 2021)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr18:29101149
GRCh38:
Chr18:31521186
DSG2E156KArrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB,
Cardiomyopathy
Uncertain significance
(Dec 27, 2021)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr18:29100782
GRCh38:
Chr18:31520819
DSG2A78EArrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Cardiomyopathy
Uncertain significance
(Oct 18, 2021)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr18:29122516
GRCh38:
Chr18:31542553
DSG2, DSG2-AS1G679SArrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Cardiomyopathy
Uncertain significance
(Jul 12, 2021)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr18:29104751
GRCh38:
Chr18:31524788
DSG2N305SArrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Cardiomyopathy,
Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Oct 12, 2021)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr18:29126297
GRCh38:
Chr18:31546334
DSG2, DSG2-AS1G983DCardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB,
Cardiomyopathy
Uncertain significance
(Nov 2, 2021)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr18:29078182
GRCh38:
Chr18:31498219
DSG2Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
Uncertain significance
(Jul 14, 2021)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr18:29118882
GRCh38:
Chr18:31538919
DSG2Y607CArrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
Uncertain significance
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr18:29125769
GRCh38:
Chr18:31545806
DSG2, DSG2-AS1L807PArrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Oct 19, 2021)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr18:29111041
GRCh38:
Chr18:31531078
DSG2K369MCardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB,
not provided, Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Jun 14, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr18:29104715-29104716
GRCh38:
Chr18:31524752-31524753
DSG2V295fsArrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10,
Dilated cardiomyopathy 1BB, See cases
Pathogenic/Likely pathogenic
(Sep 19, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr18:29116180
GRCh38:
Chr18:31536217
DSG2T480IDilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10,
Cardiomyopathy, Cardiovascular phenotype, not provided
Uncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr18:29099806
GRCh38:
Chr18:31519843
DSG2H41LArrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10,
Dilated cardiomyopathy 1BB, Cardiomyopathy
Uncertain significance
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr18:29101207-29101208
GRCh38:
Chr18:31521244-31521245
DSG2Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not provided,
Arrhythmogenic right ventricular dysplasia 10
Likely pathogenic
(Oct 7, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr18:29125938
GRCh38:
Chr18:31545975
DSG2, DSG2-AS1M863IArrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
Uncertain significance
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr18:29126091
GRCh38:
Chr18:31546128
DSG2, DSG2-AS1Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Cardiovascular phenotype,
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
Likely benign
(Apr 6, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr18:29126076
GRCh38:
Chr18:31546113
DSG2, DSG2-AS1E909DArrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Cardiomyopathy,
Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Apr 6, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr18:29115244
GRCh38:
Chr18:31535281
DSG2L431SCardiomyopathy, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10,
Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10
Conflicting interpretations of pathogenicity
(Nov 4, 2022)
criteria provided, conflicting interpretations
38.
GRCh37:
Chr18:29100845
GRCh38:
Chr18:31520882
DSG2F99YCardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10,
Dilated cardiomyopathy 1BB
Uncertain significance
(Jul 12, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr18:29122565
GRCh38:
Chr18:31542602
DSG2-AS1, DSG2T695MDilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not specified,
not provided, Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
Uncertain significance
(Sep 6, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr18:29101191-29101195
GRCh38:
Chr18:31521228-31521232
DSG2L171fsArrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10
Pathogenic/Likely pathogenic
(Oct 26, 2021)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr18:29118885-29118886
GRCh38:
Chr18:31538922-31538923
DSG2L610fsArrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10,
not provided, Cardiovascular phenotype
Pathogenic/Likely pathogenic
(Jun 13, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr18:29122735
GRCh38:
Chr18:31542772
DSG2, DSG2-AS1A753fsArrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
Pathogenic/Likely pathogenic
(Oct 10, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr18:29125855
GRCh38:
Chr18:31545892
DSG2, DSG2-AS1L836VCardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB,
not provided, Arrhythmogenic right ventricular dysplasia 10
Conflicting interpretations of pathogenicity
(Dec 30, 2022)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr18:29118706
GRCh38:
Chr18:31538743
DSG2Arrhythmogenic right ventricular dysplasia 10, not provided, Arrhythmogenic right ventricular dysplasia 10,
Dilated cardiomyopathy 1BB, Cardiomyopathy
Benign/Likely benign
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr18:29104756
GRCh38:
Chr18:31524793
DSG2L307VCardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB,
Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Sep 10, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr18:29104814
GRCh38:
Chr18:31524851
DSG2D326VArrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Dilated cardiomyopathy 1BB,
Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Feb 22, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr18:29126544
GRCh38:
Chr18:31546581
DSG2-AS1, DSG2Arrhythmogenic right ventricular dysplasia 10, not specified, not provided,
Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB,
Cardiomyopathy
Likely benign
(Jan 14, 2023)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr18:29125689
GRCh38:
Chr18:31545726
DSG2-AS1, DSG2Cardiovascular phenotype, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10,
not provided, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
Likely benign
(Oct 18, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr18:29125820
GRCh38:
Chr18:31545857
DSG2-AS1, DSG2R824HCardiovascular phenotype, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10,
Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
Conflicting interpretations of pathogenicity
(Dec 12, 2022)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr18:29125859
GRCh38:
Chr18:31545896
DSG2, DSG2-AS1A837DCardiovascular phenotype, not provided, Dilated cardiomyopathy 1BB,
Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
Uncertain significance
(Dec 4, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr18:29126302
GRCh38:
Chr18:31546339
DSG2-AS1, DSG2V985IDilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not provided,
Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
Uncertain significance
(May 27, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr18:29102135
GRCh38:
Chr18:31522172
DSG2P205SCardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB,
not provided, Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Feb 6, 2023)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr18:29115349
GRCh38:
Chr18:31535386
DSG2T466IDilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype,
not provided, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr18:29116346
GRCh38:
Chr18:31536383
DSG2D535Enot provided, Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype,
Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
Uncertain significance
(Jun 14, 2022)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr18:29126303
GRCh38:
Chr18:31546340
DSG2, DSG2-AS1V986fsnot provided, Dilated cardiomyopathy 1BB, Cardiovascular phenotype,
Arrhythmogenic right ventricular dysplasia 10
Conflicting interpretations of pathogenicity
(Aug 21, 2022)
criteria provided, conflicting interpretations
56.
GRCh37:
Chr18:29126490-29126493
GRCh38:
Chr18:31546527-31546530
DSG2-AS1, DSG2R1049fsArrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Dilated cardiomyopathy 1BB,
Arrhythmogenic right ventricular dysplasia 10, not provided
Uncertain significance
(Feb 22, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr18:29099805
GRCh38:
Chr18:31519842
DSG2H41Nnot provided, Cardiomyopathy, Cardiovascular phenotype,
Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
Likely benign
(Oct 20, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr18:29102049
GRCh38:
Chr18:31522086
DSG2T176IArrhythmogenic right ventricular dysplasia 10, not provided, Cardiomyopathy
Uncertain significance
(Jan 3, 2023)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr18:29122809
GRCh38:
Chr18:31542846
DSG2-AS1, DSG2F776Lnot provided, Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10,
Dilated cardiomyopathy 1BB, Cardiovascular phenotype, Cardiomyopathy,
Primary dilated cardiomyopathy
Uncertain significance
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr18:29104745
GRCh38:
Chr18:31524782
DSG2S303FDilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not provided,
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Jul 11, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr18:29111191
GRCh38:
Chr18:31531228
DSG2D419VArrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Cardiovascular phenotype,
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, not provided
Uncertain significance
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr18:29126917
GRCh38:
Chr18:31546954
DSG2, DSG2-AS1Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Jul 12, 2021)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr18:29126093
GRCh38:
Chr18:31546130
DSG2, DSG2-AS1R915TCardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB,
not provided, Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
Uncertain significance
(Oct 4, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr18:29101176-29101177
GRCh38:
Chr18:31521213-31521214
DSG2G166fsDilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not provided,
Arrhythmogenic right ventricular dysplasia 10
Pathogenic
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr18:29126051
GRCh38:
Chr18:31546088
DSG2, DSG2-AS1K901RCardiovascular phenotype, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10,
Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Oct 23, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr18:29125924
GRCh38:
Chr18:31545961
DSG2, DSG2-AS1T859ACardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
Uncertain significance
(Jul 15, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr18:29099892
GRCh38:
Chr18:31519929
DSG2I70VDilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype,
not specified, Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy,
not provided
Uncertain significance
(Dec 21, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr18:29104798
GRCh38:
Chr18:31524835
DSG2F321ICardiovascular phenotype, not provided, Dilated cardiomyopathy 1BB,
Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy,
Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Sep 22, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr18:29116266
GRCh38:
Chr18:31536303
DSG2D509NCardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10,
not specified, Dilated cardiomyopathy 1BB
Conflicting interpretations of pathogenicity
(Sep 1, 2022)
criteria provided, conflicting interpretations
70.
GRCh37:
Chr18:29126404-29126407
GRCh38:
Chr18:31546441-31546444
DSG2, DSG2-AS1E1020fsCardiovascular phenotype, not provided, Cardiomyopathy,
Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, Primary dilated cardiomyopathy
Conflicting interpretations of pathogenicity
(Oct 31, 2022)
criteria provided, conflicting interpretations
71.
GRCh37:
Chr18:29125995-29125997
GRCh38:
Chr18:31546032-31546034
DSG2, DSG2-AS1S884delCardiovascular phenotype, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10,
not provided, Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Sep 26, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr18:29126516
GRCh38:
Chr18:31546553
DSG2, DSG2-AS1T1056ICardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB,
not specified, not provided, Cardiomyopathy,
Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Mar 14, 2023)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr18:29116296
GRCh38:
Chr18:31536333
DSG2D519YCardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB,
not provided, Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Mar 9, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr18:29099903
GRCh38:
Chr18:31519940
DSG2Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB,
not provided, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Aug 15, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr18:29126099
GRCh38:
Chr18:31546136
DSG2-AS1, DSG2A917Vnot specified, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB,
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
Likely benign
(May 17, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr18:29126615
GRCh38:
Chr18:31546652
DSG2, DSG2-AS1G1089VArrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB,
Cardiomyopathy, not provided
Uncertain significance
(Sep 3, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr18:29116201
GRCh38:
Chr18:31536238
DSG2I487Tnot provided, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10,
Dilated cardiomyopathy 1BB
Uncertain significance
(Sep 3, 2021)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr18:29101113
GRCh38:
Chr18:31521150
DSG2E144KArrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10,
Cardiovascular phenotype, not provided, Cardiomyopathy,
not specified
Uncertain significance
(Mar 22, 2023)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr18:29102115
GRCh38:
Chr18:31522152
DSG2Y198CCardiovascular phenotype, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10,
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Hypertrophic cardiomyopathy
Uncertain significance
(Feb 23, 2022)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr18:29101207
GRCh38:
Chr18:31521244
DSG2Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Cardiomyopathy
Pathogenic/Likely pathogenic
(Oct 28, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr18:29101226
GRCh38:
Chr18:31521263
DSG2Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not specified,
Arrhythmogenic right ventricular dysplasia 10
Likely benign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr18:29099782
GRCh38:
Chr18:31519819
DSG2N33TCardiovascular phenotype, not specified, Arrhythmogenic right ventricular dysplasia 10,
Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Sep 9, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr18:29126630-29126632
GRCh38:
Chr18:31546667-31546669
DSG2, DSG2-AS1Cardiovascular phenotype, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10,
not specified, Cardiomyopathy
Conflicting interpretations of pathogenicity
(May 2, 2022)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr18:29122577
GRCh38:
Chr18:31542614
DSG2, DSG2-AS1S699Inot specified, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10,
Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
Conflicting interpretations of pathogenicity
(Dec 8, 2022)
criteria provided, conflicting interpretations
85.
GRCh37:
Chr18:29126558
GRCh38:
Chr18:31546595
DSG2, DSG2-AS1T1070MCardiovascular phenotype, not specified, Arrhythmogenic right ventricular dysplasia 10,
Dilated cardiomyopathy 1BB, not provided, Cardiomyopathy,
Arrhythmogenic right ventricular dysplasia 10
Benign/Likely benign
(Oct 29, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr18:29122514
GRCh38:
Chr18:31542551
DSG2, DSG2-AS1G678ACardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB,
not specified, not provided, Cardiomyopathy,
Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Jan 23, 2023)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr18:29125717
GRCh38:
Chr18:31545754
DSG2, DSG2-AS1H790YCardiovascular phenotype, not provided, not specified,
Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Cardiomyopathy,
Arrhythmogenic right ventricular dysplasia 10
Conflicting interpretations of pathogenicity
(Oct 25, 2022)
criteria provided, conflicting interpretations
88.
GRCh37:
Chr18:29126309
GRCh38:
Chr18:31546346
DSG2-AS1, DSG2V987Anot specified, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10,
Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Aug 27, 2021)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr18:29122786
GRCh38:
Chr18:31542823
DSG2, DSG2-AS1E769KCardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB,
not specified, not provided, Cardiomyopathy,
Arrhythmogenic right ventricular dysplasia 10
Conflicting interpretations of pathogenicity
(Dec 9, 2022)
criteria provided, conflicting interpretations
90.
GRCh37:
Chr18:29122733
GRCh38:
Chr18:31542770
DSG2-AS1, DSG2T751IArrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB,
Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy, not specified
Uncertain significance
(Sep 29, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr18:29116219
GRCh38:
Chr18:31536256
DSG2N493SCardiovascular phenotype, not specified, Arrhythmogenic right ventricular dysplasia 10,
Dilated cardiomyopathy 1BB, not provided, Cardiomyopathy,
Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
Conflicting interpretations of pathogenicity
(Mar 1, 2023)
criteria provided, conflicting interpretations
92.
GRCh37:
Chr18:29110973-29110975
GRCh38:
Chr18:31531007-31531009
DSG2K346delCardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB,
not specified, not provided, Cardiomyopathy,
Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Jun 7, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr18:29104526
GRCh38:
Chr18:31524563
DSG2I269Tnot provided, Cardiomyopathy, not specified,
Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Sep 22, 2022)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr18:29121188
GRCh38:
Chr18:31541225
DSG2G638RCardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10,
Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, not specified,
not provided
Conflicting interpretations of pathogenicity
(Oct 21, 2022)
criteria provided, conflicting interpretations
95.
GRCh37:
Chr18:29104712
GRCh38:
Chr18:31524749
DSG2R292HArrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, not specified,
not provided, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Oct 7, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr18:29102103
GRCh38:
Chr18:31522140
DSG2S194LCardiovascular phenotype, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10,
not provided, not specified, Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Dec 16, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr18:29101208
GRCh38:
Chr18:31521245
DSG2Cardiovascular phenotype, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10,
not provided, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
Pathogenic/Likely pathogenic
(Jan 4, 2023)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr18:29101156
GRCh38:
Chr18:31521193
DSG2V158GCardiovascular phenotype, Cardiomyopathy, Primary dilated cardiomyopathy,
Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, not specified,
not provided, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy,
Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 1 ...see more
Benign/Likely benign
(Feb 1, 2023)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr18:29126644
GRCh38:
Chr18:31546681
DSG2, DSG2-AS1T1099ACardiovascular phenotype, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10,
not specified, Cardiomyopathy, not provided,
Arrhythmogenic right ventricular dysplasia 10
Conflicting interpretations of pathogenicity
(Oct 25, 2022)
criteria provided, conflicting interpretations
100.
GRCh37:
Chr18:29126489
GRCh38:
Chr18:31546526
DSG2, DSG2-AS1T1047RArrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10
Uncertain significance
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
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